Wednesday, November 12, 2008

Another Diagnosis

In September, we took Sophia to an opthalmologist. The last time she saw an opthalmologist, she was 4 months old, still small, and home for just a couple of months. At that time, the visit's purpose was an ROP follow-up to make sure that she still showed no signs of retinopathy of prematurity. We also expressed to the doctor our concern that she didn't seem to be seeing and tracking. The doctor seemed rushed, and didn't explain things to us to our satisfaction, but we recall him telling us that both babies' eyes looked good, and that Sophia might have CVI (which is a vision impairment due to the brain not correctly processing what the eyes see). It was this doctor who made the referral to the neurologist, who subsequently diagnosed Sophia's PVL, cerebellum atrophy, CP, and CVI. The neurologist told us that there was no point to taking her back to the opthalmologist since she couldn't see much of anything.

Jumping ahead to last spring, when Sophia began to reach for and track objects held close to her eyes, the developmental pediatrician she sees twice a year recommended we take her to an opthalmologist again since she was seeing more. The thought was that perhaps something should be done for her crossed eyes (to improve binocular vision) since her vision was improving. So, I made the appointment with a different opthalmologist and waited with building anticipation for months for it to come.

I expected that we would leave the appointment with a plan to address her strabismus (in her case, crossed eyes). I thought we would either be told to patch her eye(s) for a certain number of hours per day, or she would have a prescription for glasses, or she would be scheduled for corrective surgery. I hoped for the surgical option, since that would straighten out her eyes and, I hoped, help her vision. I was extremely optimistic about his appointment.

Instead, we left the doctor's office with a new diagnosis. Sophia has severe optic nerve hypoplasia (ONH). This means that her optic nerve didn't develop properly. She has only about 15% of what she should (sounds kind of like the cerebellum diagnosis, huh?). The doctor said she may have CVI too, given her neurologic history (= brain damage), but that her ONH is severe enough to singularly account for her visual status. The icing on the cake is that this condition often also affects the pituitary and growth. This is called SOD, and we need to have her tested for that.

Although it doesn't matter, I don't understand why both the first opthalmologist and the neurologist missed this. Was the opthalmologist just pretending to look in her eyes? Was the MRI image so poor that the optic nerves looked normal? However, this diagnosis does answer some oddities that CVI didn't seem to explain. Sophia's light sensitivity was not typical to CVI, but people with ONH sometimes have sensitivity to light. Her CVI had seemed worse in relation to her physical impairments than it should have, according to a doctor she saw last year. So some "mysteries" have been explained.

This diagnosis didn't change Sophia's vision. She is the same cute, smiley little girl she was before the appointment. However, what it did was change my hope. With CVI, I had hope that her vision would continue to improve as her brain learned to better process the images it receives. I dared to hope that she might be able to learn to read, at least in large print. I hoped that she would be able to navigate safely through space. I hoped... We still don't know exactly what she sees since she can't tell us, but now those hopes are gone. Her brain doesn't receive all the visual signals that it should. The optic nerve can't be healed or regrown (though there has been some promising research in mice, so perhaps someday...). It is finally, heartbreakingly, accurate to say that my baby is blind.


kg said...

I enjoy your detailed updates. You're right about how this outcome doesn't change the sweet smiley Sophia you have. I think hope can reach farther than we think sometimes.

Ditto Family said...

I can only imagine how devastating this news was for you. Is their a chance that she still might be able to read braille?

Kelly said...

hi -- i have been lurking on your blog since i too have year-old twins, one with cp and one without. i am so sorry to hear of sophia's diagnosis. i know how it feels to feel like there is no hope, but the world is full of surprises. your girls are beautiful.

Dianne K. Nelson said...

It doesn't have to be the end of the story though. There may be some roads closed to Sophia, but that doesn't mean that some are still open, or that new ones may open as she grows.


K D said...

I found your blog through one of the yahoo groups I belong to for my daughter.

She was a twin and her sister died in utero. When that happened K. had a stroke. The stroke caused brain damage, microcephaly, optic nerve hypoplasia, possible CVI, dystonic quad CP.

But!!! K is doing so much better than all those labels would have you believe.

I felt compelled to write tonight b/c we have known about K.'s ONH since birth AND her vision has improved tremendously.

ONH is all about where the nerves she has are. We were told it is like real estate "location is everything." So please don't give up hope for your sweet baby girl.

We have been working with a teacher for the visually impaired. I can't remember if you are too, but if not, she has been so good with and for K.

Best wishes!